T17K (p.Thr17Lys) variant of RHO (Rhodopsin)
T17K (p.Thr17Lys) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
T17K (p.Thr17Lys) variant details
- p.Thr17Lys
- rs104893769
- ClinGen CA354495380
- ClinVar RCV001265170
- ClinVar RCV001305331
- Likely pathogenic
- not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.62
- MetaLR 0.33
- MetaSVM -0.10
- PolyPhen-2 0.80
- SIFT 0.00
- MutPred 0.72
- ClinVar: Likely pathogenic (not provided; Retinitis pigmentosa 4)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)