P12S (p.Pro12Ser) variant of CDKN1A (P38936)
P12S (p.Pro12Ser) in CDKN1A (P38936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- gnomAD 22-46248260-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.04
- CADD 6.59
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3e-05)
- Literature evidence available