K46T (p.Lys46Thr) variant of BBS4 (BBSome complex member BBS4)
K46T (p.Lys46Thr) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K46T (p.Lys46Thr) variant details
- p.Lys46Thr
- 1000Genomes rs75295839
- ESP rs75295839
- ExAC rs75295839
- TOPMed rs75295839
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.31
- MetaLR 0.34
- MetaSVM -0.43
- CADD 24.30
- PolyPhen-2 0.41
- SIFT 0.00
- EBI: Benign (in dbSNP:rs75295839)
- UniProt: Benign (in dbSNP:rs75295839)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available