R43Q (p.Arg43Gln) variant of CDKN1B (P46527)
R43Q (p.Arg43Gln) in CDKN1B (P46527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- gnomAD 12-12717967-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.37
- CADD 26.10
- PolyPhen-2 0.42
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available