T98N (p.Thr98Asn) variant of BBS2 (BBSome complex member BBS2)
T98N (p.Thr98Asn) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T98N (p.Thr98Asn) variant details
- p.Thr98Asn
- gnomAD rs1214338400
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.23
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available