D19V (p.Asp19Val) variant of PMS2 (P54278)
D19V (p.Asp19Val) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D19V (p.Asp19Val) variant details
- p.Asp19Val
- Ensembl rs1554306564
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.85
- AlphaMissense 0.72
- MetaLR 0.82
- MetaSVM 0.80
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available