Q115H (p.Gln115His) variant of MMAB (Q96EY8)
Q115H (p.Gln115His) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q115H (p.Gln115His) variant details
- p.Gln115His
- TOPMed rs1422394210
- gnomAD rs1422394210
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.35
- ESM-1b 0.23
- AlphaMissense 0.22
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available