C18G (p.Cys18Gly) variant of CDKN1A (P38936)
C18G (p.Cys18Gly) in CDKN1A (P38936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
C18G (p.Cys18Gly) variant details
- p.Cys18Gly
- gnomAD 22-46248233-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.75
- MetaLR 0.44
- MetaSVM 0.01
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Literature evidence available