T62N (p.Thr62Asn) variant of RHO (Rhodopsin)
T62N (p.Thr62Asn) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T62N (p.Thr62Asn) variant details
- p.Thr62Asn
- rs769464362
- ClinGen CA2607080
- ClinVar RCV000767358
- ClinVar RCV001869053
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.60
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)