S95N (p.Ser95Asn) variant of NPC2 (P61916)
S95N (p.Ser95Asn) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S95N (p.Ser95Asn) variant details
- p.Ser95Asn
- gnomAD 14-74484494-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.48
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available