L21R (p.Leu21Arg) variant of CDKN1A (P38936)
L21R (p.Leu21Arg) in CDKN1A (P38936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- rs770424793
- gnomAD 22-46248235-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.60
- MetaLR 0.33
- MetaSVM -0.29
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Literature evidence available