S31N (p.Ser31Asn) variant of DES (Desmin)
S31N (p.Ser31Asn) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S31N (p.Ser31Asn) variant details
- p.Ser31Asn
- gnomAD rs892698652
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.24
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available