V81A (p.Val81Ala) variant of NPC2 (P61916)
V81A (p.Val81Ala) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V81A (p.Val81Ala) variant details
- p.Val81Ala
- TOPMed rs2086688924
- gnomAD rs2086688924
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.42
- ESM-1b 0.73
- AlphaMissense 0.45
- CADD 21.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available