A12V (p.Ala12Val) variant of NPC2 (P61916)
A12V (p.Ala12Val) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- TOPMed rs981046790
- gnomAD rs981046790
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available