R45T (p.Arg45Thr) variant of MMAB (Q96EY8)
R45T (p.Arg45Thr) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R45T (p.Arg45Thr) variant details
- p.Arg45Thr
- ExAC rs780742465
- TOPMed rs780742465
- gnomAD rs780742465
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 33.00
- PolyPhen-2 0.11
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available