V20V (p.Val20Val) variant of FKRP (Q9H9S5)
V20V (p.Val20Val) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V20V (p.Val20Val) variant details
- p.Val20Val
- rs1228553738
- gnomAD 19-46755510-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.202
- CADD 7.24
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available