S15N (p.Ser15Asn) variant of ATP6V1B1 (P15313)
S15N (p.Ser15Asn) in ATP6V1B1 (P15313) 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, published literature, and structural context.
S15N (p.Ser15Asn) variant details
- p.Ser15Asn
- gnomAD 2-70935998-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.10
- CADD 2.78
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available