A54G (p.Ala54Gly) variant of BBS2 (BBSome complex member BBS2)
A54G (p.Ala54Gly) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A54G (p.Ala54Gly) variant details
- p.Ala54Gly
- gnomAD rs1227592152
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.25
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available