I23M (p.Ile23Met) variant of CSRP3 (P50461)
I23M (p.Ile23Met) in CSRP3 (P50461) 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, published literature, and structural context.
I23M (p.Ile23Met) variant details
- p.Ile23Met
- gnomAD 11-19192380-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.44
- MetaLR 0.53
- MetaSVM -0.26
- CADD 21.60
- PolyPhen-2 0.06
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available