H105R (p.His105Arg) variant of ABCC8 (Q09428)
H105R (p.His105Arg) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
H105R (p.His105Arg) variant details
- p.His105Arg
- Ensembl rs1848404950
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.92
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available