A22V (p.Ala22Val) variant of RB1 (P06400)
A22V (p.Ala22Val) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- Ensembl rs2138027521
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.06
- MetaLR 0.14
- MetaSVM -0.98
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available