A42V (p.Ala42Val) variant of FKRP (Q9H9S5)
A42V (p.Ala42Val) in FKRP (Q9H9S5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- ExAC rs768215450
- gnomAD rs768215450
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.19
- CADD 8.43
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available