N5S (p.Asn5Ser) variant of CRB1 (Protein crumbs homolog 1)
N5S (p.Asn5Ser) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- rs139427846
- ClinGen CA36039963
- ClinVar RCV001954770
- ESP rs139427846
- Uncertain significance
- Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.16
- MetaLR 0.33
- MetaSVM -0.84
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.68
- ClinVar: Uncertain significance (Retinitis pigmentosa 12; Leber congenital amaurosis 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)