G39S (p.Gly39Ser) variant of MMAB (Q96EY8)
G39S (p.Gly39Ser) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G39S (p.Gly39Ser) variant details
- p.Gly39Ser
- TOPMed rs1355023968
- gnomAD rs1355023968
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.00
- PolyPhen-2 0.06
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available