F21S (p.Phe21Ser) variant of DMD (Dystrophin)
F21S (p.Phe21Ser) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
F21S (p.Phe21Ser) variant details
- p.Phe21Ser
- Ensembl rs398124010
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.90
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.20
- PolyPhen-2 0.11
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available