M20K (p.Met20Lys) variant of ACTN2 (Alpha-actinin-2)
M20K (p.Met20Lys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M20K (p.Met20Lys) variant details
- p.Met20Lys
- gnomAD 1-236686732-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.40
- CADD 25.20
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available