A22S (p.Ala22Ser) variant of RB1 (P06400)
A22S (p.Ala22Ser) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- gnomAD 13-48303976-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -0.97
- CADD 6.79
- PolyPhen-2 0.01
- SIFT 0.92
- Population evidence available
- Structural context available
- Literature evidence available