C68W (p.Cys68Trp) variant of SHMT2 (P34897)
C68W (p.Cys68Trp) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
C68W (p.Cys68Trp) variant details
- p.Cys68Trp
- ESP rs141369249
- ExAC rs141369249
- gnomAD rs141369249
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.28
- CADD 23.50
- PolyPhen-2 0.85
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 0.0003)
- Structural context available