P57S (p.Pro57Ser) variant of IFT172 (Q9UG01)
P57S (p.Pro57Ser) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P57S (p.Pro57Ser) variant details
- p.Pro57Ser
- TOPMed rs1668684634
- gnomAD rs1668684634
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.35
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available