Q35L (p.Gln35Leu) variant of SHMT2 (P34897)
Q35L (p.Gln35Leu) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Q35L (p.Gln35Leu) variant details
- p.Gln35Leu
- ExAC rs768724103
- gnomAD rs768724103
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.04
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the HGDP:PIMA population (allele frequency 0.27)
- Structural context available