S2N (p.Ser2Asn) variant of DES (Desmin)
S2N (p.Ser2Asn) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- gnomAD 2-219418467-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.41
- CADD 26.50
- PolyPhen-2 0.49
- SIFT 0.01
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available