S25P (p.Ser25Pro) variant of FKRP (Q9H9S5)
S25P (p.Ser25Pro) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S25P (p.Ser25Pro) variant details
- p.Ser25Pro
- gnomAD rs1206533071
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.75
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.19
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available