T89A (p.Thr89Ala) variant of MMAB (Q96EY8)
T89A (p.Thr89Ala) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
T89A (p.Thr89Ala) variant details
- p.Thr89Ala
- TOPMed rs994513423
- gnomAD rs994513423
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 22.60
- PolyPhen-2 0.43
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available