A35A (p.Ala35Ala) variant of PMS1 (PMS1 protein homolog 1)
A35A (p.Ala35Ala) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A35A (p.Ala35Ala) variant details
- p.Ala35Ala
- rs1318842000
- gnomAD 2-189791914-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0895
- Literature evidence available