G107V (p.Gly107Val) variant of MMAB (Q96EY8)
G107V (p.Gly107Val) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G107V (p.Gly107Val) variant details
- p.Gly107Val
- TOPMed rs1274386577
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 23.70
- PolyPhen-2 0.69
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available