S14N (p.Ser14Asn) variant of PMS1 (PMS1 protein homolog 1)
S14N (p.Ser14Asn) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- ExAC rs763166242
- gnomAD rs763166242
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.86
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0625