S25S (p.Ser25Ser) variant of FKRP (Q9H9S5)
S25S (p.Ser25Ser) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S25S (p.Ser25Ser) variant details
- p.Ser25Ser
- rs1555738032
- gnomAD 19-46755525-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0845
- CADD 0.96
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available