A76T (p.Ala76Thr) variant of CEP290 (Centrosomal protein of 290 kDa)
A76T (p.Ala76Thr) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Joubert syndrome; Nephronophthisis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- rs373913704
- ClinGen CA233682
- cosmic curated COSV99898
- ClinVar RCV000723892
- Conflicting interpretations
- Inborn genetic diseases; Joubert syndrome; Nephronophthisis
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.29
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Joubert syndrome; Nephronophthisis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)