L43V (p.Leu43Val) variant of BBS1 (BBSome complex member BBS1)
L43V (p.Leu43Val) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- rs1855936862
- ClinGen CA381453983
- ClinVar RCV001822800
- ClinVar RCV004728834
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.71
- CADD 26.60
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available