I26V (p.Ile26Val) variant of PMS2 (P54278)
I26V (p.Ile26Val) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- TOPMed rs1412094620
- gnomAD rs1412094620
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.81
- AlphaMissense 0.69
- MetaLR 0.87
- MetaSVM 0.88
- CADD 25.10
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available