E18K (p.Glu18Lys) variant of BBS1 (BBSome complex member BBS1)
E18K (p.Glu18Lys) in BBS1 (BBSome complex member BBS1) 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 0.54 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- NCI-TCGA Cosmic COSV5914
- cosmic curated COSV59148
- Ensembl rs1855931587
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.49
- CADD 28.60
- PolyPhen-2 0.29
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available