A23D (p.Ala23Asp) variant of SHMT2 (P34897)
A23D (p.Ala23Asp) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- TOPMed rs1401525851
- gnomAD rs1401525851
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.17
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available