G17V (p.Gly17Val) variant of MMAB (Q96EY8)
G17V (p.Gly17Val) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- gnomAD rs1337192403
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.48
- ESM-1b 0.07
- AlphaMissense 0.12
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.9e-05)
- Structural context available