H29Q (p.His29Gln) variant of FKRP (Q9H9S5)
H29Q (p.His29Gln) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H29Q (p.His29Gln) variant details
- p.His29Gln
- Ensembl rs112243410
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.43
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available