C13Y (p.Cys13Tyr) variant of CDKN1A (P38936)
C13Y (p.Cys13Tyr) in CDKN1A (P38936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
C13Y (p.Cys13Tyr) variant details
- p.Cys13Tyr
- gnomAD 22-46248241-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.68
- MetaLR 0.46
- MetaSVM 0.03
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Literature evidence available