A29S (p.Ala29Ser) variant of IL17F (Interleukin-17F)
A29S (p.Ala29Ser) in IL17F (Interleukin-17F) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Candidiasis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- rs2128267832
- ClinGen CA2573140983
- ClinVar RCV001949101
- Ensembl rs2128267832
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.04
- CADD 7.74
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available