P131T (p.Pro131Thr) variant of MMAB (Q96EY8)
P131T (p.Pro131Thr) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P131T (p.Pro131Thr) variant details
- p.Pro131Thr
- TOPMed rs1369813638
- gnomAD rs1369813638
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available