K64del (p.Lys64del) variant of SHMT2 (P34897)
K64del (p.Lys64del) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
K64del (p.Lys64del) variant details
- rs765524143
- gnomAD 12-57230956-GAGA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 21.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0019)
- Structural context available
- Literature evidence available