S14T (p.Ser14Thr) variant of BAG3 (O95817)
S14T (p.Ser14Thr) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S14T (p.Ser14Thr) variant details
- p.Ser14Thr
- gnomAD 10-119651715-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.12
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.31
- Literature evidence available