L6V (p.Leu6Val) variant of SHMT2 (P34897)
L6V (p.Leu6Val) in SHMT2 (P34897) is a protein-truncating 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.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- gnomAD 12-57229792-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available