I74F (p.Ile74Phe) variant of SHMT2 (P34897)
I74F (p.Ile74Phe) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I74F (p.Ile74Phe) variant details
- p.Ile74Phe
- Ensembl rs2037292972
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.64
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available