A8S (p.Ala8Ser) variant of BCR (P11274)
A8S (p.Ala8Ser) in BCR (P11274) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 22-23180982-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.07
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available