A41T (p.Ala41Thr) variant of RHO (Rhodopsin)
A41T (p.Ala41Thr) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- rs927794488
- ClinGen CA82646751
- ClinVar RCV003722060
- TOPMed rs927794488
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.32
- CADD 22.50
- PolyPhen-2 0.23
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available