L88V (p.Leu88Val) variant of SHMT2 (P34897)
L88V (p.Leu88Val) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L88V (p.Leu88Val) variant details
- p.Leu88Val
- TOPMed rs1168068668
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- CADD 17.50
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the Middle Eastern population (allele frequency 0.001)
- Structural context available