A19T (p.Ala19Thr) variant of BBS1 (BBSome complex member BBS1)
A19T (p.Ala19Thr) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- cosmic curated COSV10056
- ExAC rs753795220
- TOPMed rs753795220
- gnomAD rs753795220
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.22
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available