G58G (p.Gly58Gly) variant of PMS1 (PMS1 protein homolog 1)
G58G (p.Gly58Gly) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G58G (p.Gly58Gly) variant details
- p.Gly58Gly
- rs143323454
- gnomAD 2-189795810-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 7.18
- 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 -0.267
- Literature evidence available