I4K (p.Ile4Lys) variant of ACTN2 (Alpha-actinin-2)
I4K (p.Ile4Lys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I4K (p.Ile4Lys) variant details
- p.Ile4Lys
- gnomAD rs1482303680
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.38
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available