V6A (p.Val6Ala) variant of BBS4 (BBSome complex member BBS4)
V6A (p.Val6Ala) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- rs113994185
- ClinGen CA342428
- ClinVar RCV000020940
- gnomAD rs113994185
- Benign
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -1.01
- CADD 4.53
- PolyPhen-2 0.00
- SIFT 0.95
- ClinVar: Benign (Bardet-Biedl syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)