V20I (p.Val20Ile) variant of FKRP (Q9H9S5)
V20I (p.Val20Ile) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- gnomAD rs1285912465
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.36
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available