A14D (p.Ala14Asp) variant of PMS2 (P54278)
A14D (p.Ala14Asp) 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 0.46 / 1. The record also includes population frequency data and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- ExAC rs750524554
- gnomAD rs750524554
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.50
- AlphaMissense 0.10
- MetaLR 0.57
- MetaSVM 0.05
- CADD 24.60
- PolyPhen-2 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available