A13S (p.Ala13Ser) variant of RB1 (P06400)
A13S (p.Ala13Ser) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 13-48303949-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.08
- MetaLR 0.50
- MetaSVM -0.55
- CADD 6.48
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available