K8Q (p.Lys8Gln) variant of RB1 (P06400)
K8Q (p.Lys8Gln) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K8Q (p.Lys8Gln) variant details
- p.Lys8Gln
- gnomAD 13-48303934-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.14
- MetaLR 0.59
- MetaSVM -0.21
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available