R6H (p.Arg6His) variant of NOTCH3 (Q9UM47)
R6H (p.Arg6His) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- TOPMed rs1198745617
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.22
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the South Asian population (allele frequency 0.00024)
- Structural context available