V37A (p.Val37Ala) variant of NPC2 (P61916)
V37A (p.Val37Ala) 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.
V37A (p.Val37Ala) variant details
- p.Val37Ala
- gnomAD rs2086712978
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.87
- ESM-1b 0.90
- AlphaMissense 0.81
- CADD 27.20
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available