D41N (p.Asp41Asn) variant of BAG3 (O95817)
D41N (p.Asp41Asn) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- gnomAD rs1167031491
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.49
- CADD 32.00
- 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 -0.45