R5H (p.Arg5His) variant of KIT (P10721)
R5H (p.Arg5His) in KIT (P10721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- Ensembl rs1716939382
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.33
- MetaLR 0.40
- MetaSVM -0.59
- CADD 24.80
- PolyPhen-2 0.79
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available