S2R (p.Ser2Arg) variant of DES (Desmin)
S2R (p.Ser2Arg) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- gnomAD 2-219418468-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.51
- CADD 25.90
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available