V39A (p.Val39Ala) variant of NPC2 (P61916)
V39A (p.Val39Ala) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- TOPMed rs1334912147
- gnomAD rs1334912147
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available