E30V (p.Glu30Val) variant of NPC1 (O15118)
E30V (p.Glu30Val) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E30V (p.Glu30Val) variant details
- p.Glu30Val
- rs776166330
- ClinGen CA8913827
- ClinVar RCV000734163
- ClinVar RCV002485934
- Uncertain significance
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.76
- CADD 23.30
- PolyPhen-2 0.32
- SIFT 0.25
- ClinVar: Uncertain significance (not provided; Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)