P131A (p.Pro131Ala) variant of MMAB (Q96EY8)
P131A (p.Pro131Ala) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P131A (p.Pro131Ala) variant details
- p.Pro131Ala
- TOPMed rs1369813638
- gnomAD rs1369813638
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 24.80
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available