K51T (p.Lys51Thr) variant of PMS1 (PMS1 protein homolog 1)
K51T (p.Lys51Thr) 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 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K51T (p.Lys51Thr) variant details
- p.Lys51Thr
- cosmic curated COSV59715
- ESP rs370668897
- ExAC rs370668897
- TOPMed rs370668897
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.83
- CADD 26.70
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.513