S113G (p.Ser113Gly) variant of IFT172 (Q9UG01)
S113G (p.Ser113Gly) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S113G (p.Ser113Gly) variant details
- p.Ser113Gly
- TOPMed rs1339707073
- gnomAD rs1339707073
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available