S114N (p.Ser114Asn) variant of NPC1 (O15118)
S114N (p.Ser114Asn) in NPC1 (O15118) 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 and structural context.
S114N (p.Ser114Asn) variant details
- p.Ser114Asn
- gnomAD rs1184328174
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.73
- CADD 24.60
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available