A6S (p.Ala6Ser) variant of U2AF1 (Q01081)
A6S (p.Ala6Ser) in U2AF1 (Q01081) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 21-43107479-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.36
- MetaLR 0.22
- MetaSVM -0.74
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available