Y107C (p.Tyr107Cys) variant of NPC2 (P61916)
Y107C (p.Tyr107Cys) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y107C (p.Tyr107Cys) variant details
- p.Tyr107Cys
- gnomAD 14-74484458-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available