T27I (p.Thr27Ile) variant of BBS2 (BBSome complex member BBS2)
T27I (p.Thr27Ile) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T27I (p.Thr27Ile) variant details
- p.Thr27Ile
- gnomAD rs1259379121
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.05
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available