N57D (p.Asn57Asp) variant of PMS1 (PMS1 protein homolog 1)
N57D (p.Asn57Asp) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N57D (p.Asn57Asp) variant details
- p.Asn57Asp
- gnomAD rs1168215654
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.70
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- 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 -0.18