N46S (p.Asn46Ser) variant of PMS1 (PMS1 protein homolog 1)
N46S (p.Asn46Ser) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N46S (p.Asn46Ser) variant details
- p.Asn46Ser
- TOPMed rs1477413205
- gnomAD rs1477413205
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.69
- CADD 23.70
- PolyPhen-2 0.81
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -1.68