S31L (p.Ser31Leu) variant of CDKN1A (P38936)
S31L (p.Ser31Leu) in CDKN1A (P38936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- rs758111260
- gnomAD 22-46247150-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.46
- MetaLR 0.31
- MetaSVM -0.36
- CADD 24.60
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00018)
- Literature evidence available