L11P (p.Leu11Pro) variant of PMS1 (PMS1 protein homolog 1)
L11P (p.Leu11Pro) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- ExAC rs770894099
- TOPMed rs770894099
- gnomAD rs770894099
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- 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 -0.432