L10Q (p.Leu10Gln) variant of AGRN (Agrin)
L10Q (p.Leu10Gln) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L10Q (p.Leu10Gln) variant details
- p.Leu10Gln
- gnomAD 1-1020201-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.33
- MetaLR 0.31
- MetaSVM -0.77
- CADD 16.70
- PolyPhen-2 0.17
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available