A45T (p.Ala45Thr) variant of FKRP (Q9H9S5)
A45T (p.Ala45Thr) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- gnomAD 19-46755583-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.19
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available