S50N (p.Ser50Asn) variant of NPC2 (P61916)
S50N (p.Ser50Asn) 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 and structural context.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- TOPMed rs993005043
- gnomAD rs993005043
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 1.76
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available