K20I (p.Lys20Ile) variant of BBS4 (BBSome complex member BBS4)
K20I (p.Lys20Ile) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
K20I (p.Lys20Ile) variant details
- p.Lys20Ile
- NCI-TCGA Cosmic COSV5143
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available