A14S (p.Ala14Ser) variant of RB1 (P06400)
A14S (p.Ala14Ser) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 13-48303952-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.12
- MetaLR 0.47
- MetaSVM -0.56
- CADD 7.82
- PolyPhen-2 0.11
- SIFT 0.92
- Population evidence available
- Structural context available
- Literature evidence available