T16N (p.Thr16Asn) variant of BBS4 (BBSome complex member BBS4)
T16N (p.Thr16Asn) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T16N (p.Thr16Asn) variant details
- p.Thr16Asn
- gnomAD 15-72695199-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.07
- MetaLR 0.18
- MetaSVM -0.97
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available