E5V (p.Glu5Val) variant of PMS2 (P54278)
E5V (p.Glu5Val) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Lynch syndrome; Lynch syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- rs876659080
- ClinGen CA10578735
- ClinVar RCV000214871
- ClinVar RCV000685125
- Uncertain significance
- not provided; Lynch syndrome; Lynch syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.50
- AlphaMissense 0.06
- MetaLR 0.50
- MetaSVM -0.73
- CADD 16.20
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not provided; Lynch syndrome; Lynch syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
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