K62E (p.Lys62Glu) variant of PMS1 (PMS1 protein homolog 1)
K62E (p.Lys62Glu) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K62E (p.Lys62Glu) variant details
- p.Lys62Glu
- Ensembl rs2049306445
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.45
- CADD 25.40
- PolyPhen-2 0.57
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.104