P26Q (p.Pro26Gln) variant of RB1 (P06400)
P26Q (p.Pro26Gln) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- gnomAD 13-48303989-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.18
- MetaLR 0.31
- MetaSVM -0.87
- CADD 5.67
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available