L13P (p.Leu13Pro) variant of SHMT2 (P34897)
L13P (p.Leu13Pro) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD rs1487312566
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.19
- CADD 26.00
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available