K4Q (p.Lys4Gln) variant of RB1 (P06400)
K4Q (p.Lys4Gln) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
K4Q (p.Lys4Gln) variant details
- p.Lys4Gln
- gnomAD 13-48303922-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.47
- MetaLR 0.80
- MetaSVM 0.49
- CADD 26.50
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available