Q3P (p.Gln3Pro) variant of PMS1 (PMS1 protein homolog 1)
Q3P (p.Gln3Pro) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q3P (p.Gln3Pro) variant details
- p.Gln3Pro
- Ensembl rs2106212459
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.59
- CADD 23.60
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.545