T15T (p.Thr15Thr) variant of FKRP (Q9H9S5)
T15T (p.Thr15Thr) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T15T (p.Thr15Thr) variant details
- p.Thr15Thr
- gnomAD 19-46755495-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.88
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available