K142N (p.Lys142Asn) variant of CEP290 (Centrosomal protein of 290 kDa)
K142N (p.Lys142Asn) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K142N (p.Lys142Asn) variant details
- p.Lys142Asn
- NCI-TCGA Cosmic COSV5835
- cosmic curated COSV58351
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.44
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available