P23A (p.Pro23Ala) variant of RB1 (P06400)
P23A (p.Pro23Ala) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- gnomAD 13-48303979-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.18
- MetaLR 0.43
- MetaSVM -0.71
- CADD 9.73
- PolyPhen-2 0.05
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available