A34V (p.Ala34Val) variant of NPC1 (O15118)
A34V (p.Ala34Val) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- Ensembl rs1567981337
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.33
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available