L11P (p.Leu11Pro) variant of MMUT (P22033)
L11P (p.Leu11Pro) 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 0.58 / 1. The record also includes population frequency data and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs763898170
- ClinGen CA3847192
- ClinVar RCV002634149
- ExAC rs763898170
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.58
- CADD 17.30
- PolyPhen-2 0.12
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available