S69N (p.Ser69Asn) variant of NPC2 (P61916)
S69N (p.Ser69Asn) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S69N (p.Ser69Asn) variant details
- p.Ser69Asn
- Ensembl rs2086689639
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 2.92
- PolyPhen-2 0.00
- SIFT 0.98
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available