R108L (p.Arg108Leu) variant of MMUT (P22033)
R108L (p.Arg108Leu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R108L (p.Arg108Leu) variant details
- p.Arg108Leu
- rs483352778
- ClinGen CA364404997
- ClinVar RCV003575697
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.97
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in MAMM)
- UniProt: Likely pathogenic (in MAMM)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available