P180T (p.Pro180Thr) variant of RHO (Rhodopsin)
P180T (p.Pro180Thr) 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 0.49 / 1. The record also includes published literature and structural context.
P180T (p.Pro180Thr) variant details
- p.Pro180Thr
- rs1560046837
- ClinGen CA354499098
- ClinVar RCV000767362
- ClinVar RCV005092202
- Likely pathogenic
- not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.92
- MetaLR 0.33
- MetaSVM -0.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- 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)