L12F (p.Leu12Phe) variant of PMS1 (PMS1 protein homolog 1)
L12F (p.Leu12Phe) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- ESP rs374261058
- ExAC rs374261058
- TOPMed rs374261058
- gnomAD rs374261058
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.81
- CADD 23.80
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.399