V88M (p.Val88Met) variant of MMUT (P22033)
V88M (p.Val88Met) in MMUT (P22033) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V88M (p.Val88Met) variant details
- p.Val88Met
- rs776085460
- ClinGen CA3847148
- ClinVar RCV003087614
- ExAC rs776085460
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.25
- CADD 14.10
- PolyPhen-2 0.06
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available