A153T (p.Ala153Thr) variant of RPGR (Q92834)
A153T (p.Ala153Thr) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
A153T (p.Ala153Thr) variant details
- p.Ala153Thr
- rs2067875526
- ClinGen CA412745012
- cosmic curated COSV10014
- ClinVar RCV001197969
- Uncertain significance
- Retinitis pigmentosa 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 0.54
- MetaLR 0.78
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.92
- ClinVar: Uncertain significance (Retinitis pigmentosa 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)