P21A (p.Pro21Ala) variant of RB1 (P06400)
P21A (p.Pro21Ala) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- gnomAD 13-48303973-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.20
- MetaLR 0.56
- MetaSVM -0.39
- CADD 18.30
- PolyPhen-2 0.96
- SIFT 0.52
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available