R20H (p.Arg20His) variant of CDKN1A (P38936)
R20H (p.Arg20His) in CDKN1A (P38936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
R20H (p.Arg20His) variant details
- p.Arg20His
- rs375050346
- ClinGen CA3780315
- cosmic curated COSV55189
- ClinVar RCV004167878
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.25
- MetaLR 0.25
- MetaSVM -0.88
- PolyPhen-2 0.10
- SIFT 0.19
- MutPred 0.61
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available