F31S (p.Phe31Ser) variant of IFT172 (Q9UG01)
F31S (p.Phe31Ser) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
F31S (p.Phe31Ser) variant details
- p.Phe31Ser
- gnomAD rs1472492385
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.53
- CADD 24.80
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available