Y47Y (p.Tyr47Tyr) variant of PMS1 (PMS1 protein homolog 1)
Y47Y (p.Tyr47Tyr) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y47Y (p.Tyr47Tyr) variant details
- p.Tyr47Tyr
- rs5742980
- gnomAD 2-189795777-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 8.34
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.218
- Literature evidence available