L11R (p.Leu11Arg) variant of PMS1 (PMS1 protein homolog 1)
L11R (p.Leu11Arg) in PMS1 (PMS1 protein homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- ExAC rs770894099
- TOPMed rs770894099
- gnomAD rs770894099
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.74
- CADD 28.10
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.432