A927V (p.Ala927Val) variant of NPC1 (O15118)
A927V (p.Ala927Val) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A927V (p.Ala927Val) variant details
- p.Ala927Val
- rs753768576
- ClinGen CA8912979
- NCI-TCGA Cosmic COSV5257
- ClinVar RCV000668027
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.79
- AlphaMissense 0.22
- MetaLR 0.84
- MetaSVM 0.85
- CADD 28.40
- PolyPhen-2 0.89
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Niemann-Pick disease, typ)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. (PMID 11545687)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)