R12H (p.Arg12His) variant of NOTCH3 (Q9UM47)
R12H (p.Arg12His) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- Ensembl rs2047007605
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.33
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.18
- Most common in the South Asian population (allele frequency 8.7e-05)
- Structural context available