H2P (p.His2Pro) variant of IFT172 (Q9UG01)
H2P (p.His2Pro) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H2P (p.His2Pro) variant details
- p.His2Pro
- rs781257867
- ClinGen CA1581145
- ClinVar RCV001294412
- ExAC rs781257867
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.05
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available