Q67K (p.Gln67Lys) variant of SHMT2 (P34897)
Q67K (p.Gln67Lys) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q67K (p.Gln67Lys) variant details
- p.Gln67Lys
- gnomAD 12-57230968-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.53
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available
- Literature evidence available