T70A (p.Thr70Ala) variant of MMAB (Q96EY8)
T70A (p.Thr70Ala) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
T70A (p.Thr70Ala) variant details
- p.Thr70Ala
- gnomAD rs1170620183
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 24.00
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available