E3A (p.Glu3Ala) variant of CDKN1A (P38936)
E3A (p.Glu3Ala) in CDKN1A (P38936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and published literature.
E3A (p.Glu3Ala) variant details
- p.Glu3Ala
- rs1433136546
- gnomAD 22-46248268-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.11
- MetaLR 0.12
- MetaSVM -0.97
- CADD 16.90
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Literature evidence available