H2N (p.His2Asn) variant of IFT172 (Q9UG01)
H2N (p.His2Asn) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H2N (p.His2Asn) variant details
- p.His2Asn
- rs752135960
- ClinGen CA1581146
- ClinVar RCV003890672
- ExAC rs752135960
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available