S31= variant of DES (Desmin)
S31= in DES (Desmin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S31= variant details
- rs2017800
- ClinVar RCV000154434
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.50
- MetaLR 0.41
- MetaSVM -0.23
- PolyPhen-2 0.19
- SIFT 0.26
- MutPred 0.46
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available