L19P (p.Leu19Pro) variant of SHMT2 (P34897)
L19P (p.Leu19Pro) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- TOPMed rs1333432063
- gnomAD rs1333432063
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.21
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available