p.Thr38 Val40delinsIle variant of PMS1 (PMS1 protein homolog 1)
p.Thr38 Val40delinsIle in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Thr38 Val40delinsIle variant details
- rs761879899
- gnomAD 2-189791921-ACAAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 21.70
- 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 -0.504
- Literature evidence available