P82A (p.Pro82Ala) variant of NPC2 (P61916)
P82A (p.Pro82Ala) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- gnomAD 14-74484534-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.27
- ESM-1b 0.96
- AlphaMissense 0.11
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available