F4L (p.Phe4Leu) variant of SHMT2 (P34897)
F4L (p.Phe4Leu) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- Ensembl rs1018328554
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.26
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available