K51E (p.Lys51Glu) variant of PMS1 (PMS1 protein homolog 1)
K51E (p.Lys51Glu) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K51E (p.Lys51Glu) variant details
- p.Lys51Glu
- gnomAD 2-189795787-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.81
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.513
- Literature evidence available