K64* (p.Lys64Ter) variant of SHMT2 (P34897)
K64* (p.Lys64Ter) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K64* (p.Lys64Ter) variant details
- p.Lys64Ter
- gnomAD 12-57230959-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 37.00
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available
- Literature evidence available