A14G (p.Ala14Gly) variant of BBS1 (BBSome complex member BBS1)
A14G (p.Ala14Gly) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- rs774110999
- ClinGen CA381453346
- ClinVar RCV000585181
- ClinVar RCV001199647
- Conflicting interpretations
- not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.25
- AlphaMissense 0.08
- MetaLR 0.74
- MetaSVM -0.05
- CADD 20.20
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)