L12I (p.Leu12Ile) variant of PMS1 (PMS1 protein homolog 1)
L12I (p.Leu12Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- ESP rs374261058
- ExAC rs374261058
- TOPMed rs374261058
- gnomAD rs374261058
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.55
- CADD 22.40
- PolyPhen-2 0.39
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.399