S69R (p.Ser69Arg) variant of MMAB (Q96EY8)
S69R (p.Ser69Arg) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S69R (p.Ser69Arg) variant details
- p.Ser69Arg
- ExAC rs771667098
- gnomAD rs771667098
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.86
- CADD 22.90
- PolyPhen-2 0.39
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available