L19V (p.Leu19Val) variant of SHMT2 (P34897)
L19V (p.Leu19Val) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD 12-57230824-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.06
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available