A19D (p.Ala19Asp) variant of NPC2 (P61916)
A19D (p.Ala19Asp) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C2; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- rs369392502
- ClinGen CA7268214
- cosmic curated COSV99467
- ClinVar RCV001115296
- Uncertain significance
- Niemann-Pick disease, type C2; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2; Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)