A17V (p.Ala17Val) variant of NPC2 (P61916)
A17V (p.Ala17Val) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- ExAC rs764017800
- gnomAD rs764017800
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available