A2T (p.Ala2Thr) variant of CRB1 (Protein crumbs homolog 1)
A2T (p.Ala2Thr) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 12; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs1203732030
- ClinGen CA344082247
- ClinVar RCV001990881
- TOPMed rs1203732030
- Uncertain significance
- Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.15
- MetaLR 0.38
- MetaSVM -0.66
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Retinitis pigmentosa 12; Leber congenital amaurosis 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)