H108R (p.His108Arg) variant of MMAB (Q96EY8)
H108R (p.His108Arg) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
H108R (p.His108Arg) variant details
- p.His108Arg
- gnomAD rs1371803607
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.35
- ESM-1b 0.06
- AlphaMissense 0.24
- CADD 22.00
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available