T162P (p.Thr162Pro) variant of RPE65 (Retinoid isomerohydrolase)
T162P (p.Thr162Pro) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T162P (p.Thr162Pro) variant details
- p.Thr162Pro
- rs774309607
- ClinGen CA902499
- ClinVar RCV001089896
- ClinVar RCV001206190
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.92
- MetaLR 0.94
- MetaSVM 1.04
- CADD 26.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Likely pathogenic (in LCA2)
- UniProt: Likely pathogenic (in LCA2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson… (PMID 17964524)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)