M70V (p.Met70Val) variant of IL17F (Interleukin-17F)
M70V (p.Met70Val) 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 0.08 / 1. The record also includes population frequency data and structural context.
M70V (p.Met70Val) variant details
- p.Met70Val
- rs764517083
- ClinGen CA138969980
- ClinVar RCV001875382
- TOPMed rs764517083
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0768
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -1.06
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available