L119R (p.Leu119Arg) variant of CDKN1C (P49918)
L119R (p.Leu119Arg) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L119R (p.Leu119Arg) variant details
- p.Leu119Arg
- rs780417247
- gnomAD 11-2884049-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- MetaLR 0.21
- MetaSVM -0.90
- CADD 2.16
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available