N143K (p.Asn143Lys) variant of IFT172 (Q9UG01)
N143K (p.Asn143Lys) 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 0.43 / 1. The record also includes structural context.
N143K (p.Asn143Lys) variant details
- p.Asn143Lys
- rs767828329
- ClinGen CA346400698
- ClinVar RCV002592059
- ExAC rs767828329
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.94
- MetaLR 0.36
- MetaSVM -0.44
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.30
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available