A15V (p.Ala15Val) variant of RB1 (P06400)
A15V (p.Ala15Val) in RB1 (P06400) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- 1000Genomes rs564137727
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.14
- MetaLR 0.55
- MetaSVM -0.47
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available