S82N (p.Ser82Asn) variant of CRB1 (Protein crumbs homolog 1)
S82N (p.Ser82Asn) 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 Leber congenital amaurosis 8; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S82N (p.Ser82Asn) variant details
- p.Ser82Asn
- rs1658661237
- ClinGen CA344085356
- ClinVar RCV001318707
- ClinVar RCV001836300
- Uncertain significance
- Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.15
- MetaLR 0.30
- MetaSVM -0.71
- CADD 1.23
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Leber congenital amaurosis 8; Retinitis pigmentosa 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- 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)