I74N (p.Ile74Asn) variant of SHMT2 (P34897)
I74N (p.Ile74Asn) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
I74N (p.Ile74Asn) variant details
- p.Ile74Asn
- TOPMed rs2037293115
- gnomAD rs2037293115
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.71
- CADD 32.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available