G87V (p.Gly87Val) variant of MMAB (Q96EY8)
G87V (p.Gly87Val) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G87V (p.Gly87Val) variant details
- p.Gly87Val
- gnomAD rs1206707582
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available