L17V (p.Leu17Val) variant of SMAD4 (SMAD family member 4)
L17V (p.Leu17Val) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- Ensembl rs1555684997
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.94
- MetaSVM 1.02
- CADD 23.20
- EBI: Benign
- UniProt: Benign
- Structural context available