A42T (p.Ala42Thr) variant of RHO (Rhodopsin)
A42T (p.Ala42Thr) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- rs538820015
- ClinGen CA2607065
- ClinVar RCV001897809
- ClinVar RCV003888375
- Conflicting interpretations
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.28
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available