A36A (p.Ala36Ala) variant of FKRP (Q9H9S5)
A36A (p.Ala36Ala) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A36A (p.Ala36Ala) variant details
- p.Ala36Ala
- rs757482530
- gnomAD 19-46755558-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 7.71
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available