R8H (p.Arg8His) variant of NOTCH3 (Q9UM47)
R8H (p.Arg8His) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- Ensembl rs1448789814
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.12
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available