P24A (p.Pro24Ala) variant of RB1 (P06400)
P24A (p.Pro24Ala) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- gnomAD 13-48303982-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.26
- MetaLR 0.68
- MetaSVM -0.17
- CADD 15.80
- PolyPhen-2 0.96
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available