A32A (p.Ala32Ala) variant of SHMT2 (P34897)
A32A (p.Ala32Ala) in SHMT2 (P34897) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A32A (p.Ala32Ala) variant details
- p.Ala32Ala
- rs1366965602
- gnomAD 12-57230865-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 14.50
- Most common in the HGDP:LAHU population (allele frequency 0.1)
- Structural context available
- Literature evidence available