W8R (p.Trp8Arg) variant of SHMT2 (P34897)
W8R (p.Trp8Arg) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
W8R (p.Trp8Arg) variant details
- p.Trp8Arg
- cosmic curated COSV10733
- TOPMed rs1247786813
- gnomAD rs1247786813
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.24
- CADD 8.82
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available