G58E (p.Gly58Glu) variant of PMS1 (PMS1 protein homolog 1)
G58E (p.Gly58Glu) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G58E (p.Gly58Glu) variant details
- p.Gly58Glu
- cosmic curated COSV10520
- ExAC rs773700771
- gnomAD rs773700771
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.99
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.267