V77A (p.Val77Ala) variant of NPC1 (O15118)
V77A (p.Val77Ala) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V77A (p.Val77Ala) variant details
- p.Val77Ala
- gnomAD rs2059212939
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.28
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available