A31A (p.Ala31Ala) variant of SHMT2 (P34897)
A31A (p.Ala31Ala) in SHMT2 (P34897) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A31A (p.Ala31Ala) variant details
- p.Ala31Ala
- gnomAD 12-57230862-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.96
- Most common in the REMAINING population (allele frequency 0.0003)
- Structural context available
- Literature evidence available