M20I (p.Met20Ile) variant of ACTN2 (Alpha-actinin-2)
M20I (p.Met20Ile) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M20I (p.Met20Ile) variant details
- p.Met20Ile
- gnomAD 1-236686733-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.34
- CADD 25.00
- PolyPhen-2 0.38
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available