N43T (p.Asn43Thr) variant of BAG3 (O95817)
N43T (p.Asn43Thr) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N43T (p.Asn43Thr) variant details
- p.Asn43Thr
- ExAC rs201329879
- gnomAD rs201329879
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.67
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.788