M11V (p.Met11Val) variant of CEP290 (Centrosomal protein of 290 kDa)
M11V (p.Met11Val) 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 Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6. 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.
M11V (p.Met11Val) variant details
- p.Met11Val
- rs185939120
- ClinGen CA6712929
- ClinVar RCV000294199
- ClinVar RCV000297891
- Uncertain significance
- Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-L)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)