L72S (p.Leu72Ser) variant of MMUT (P22033)
L72S (p.Leu72Ser) 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 0.70 / 1. The record also includes population frequency data and structural context.
L72S (p.Leu72Ser) variant details
- p.Leu72Ser
- rs753913987
- ClinGen CA3847160
- ClinVar RCV002630640
- ExAC rs753913987
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.78
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available