A14V (p.Ala14Val) variant of DIP2B (Q9P265)
A14V (p.Ala14Val) in DIP2B (Q9P265) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs1381140625
- ClinGen CA384819006
- ClinVar RCV004125573
- TOPMed rs1381140625
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -0.92
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available