A28V (p.Ala28Val) variant of IL17F (Interleukin-17F)
A28V (p.Ala28Val) in IL17F (Interleukin-17F) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Candidiasis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs201102127
- ClinGen CA3854451
- ClinVar RCV001245270
- ClinVar RCV004034818
- Conflicting interpretations
- not specified; not provided; Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0723
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -1.08
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Candidiasis, familial, 6)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available