P3H (p.Pro3His) variant of RB1 (P06400)
P3H (p.Pro3His) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P3H (p.Pro3His) variant details
- p.Pro3His
- Ensembl rs2138026992
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.60
- MetaLR 0.82
- MetaSVM 0.79
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available