G11S (p.Gly11Ser) variant of MMAB (Q96EY8)
G11S (p.Gly11Ser) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- ExAC rs749112019
- gnomAD rs749112019
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.26
- ESM-1b 0.80
- AlphaMissense 0.13
- CADD 8.57
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available