M92V (p.Met92Val) variant of CEP290 (Centrosomal protein of 290 kDa)
M92V (p.Met92Val) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Meckel syndrome, type 4; Bardet-Biedl syndrome 14; Leber congenital amaurosis 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
M92V (p.Met92Val) variant details
- p.Met92Val
- rs951351175
- ClinGen CA241166992
- ClinVar RCV001113986
- ClinVar RCV001113987
- Uncertain significance
- Meckel syndrome, type 4; Bardet-Biedl syndrome 14; Leber congenital amaurosis 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.23
- CADD 20.90
- PolyPhen-2 0.09
- SIFT 0.20
- ClinVar: Uncertain significance (Meckel syndrome, type 4; Bardet-Biedl syndrome 14; Leber congeni)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)