R19S (p.Arg19Ser) variant of CDKN1B (P46527)
R19S (p.Arg19Ser) in CDKN1B (P46527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- gnomAD 12-12717896-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.63
- CADD 20.60
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available