S81C (p.Ser81Cys) variant of SHMT2 (P34897)
S81C (p.Ser81Cys) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S81C (p.Ser81Cys) variant details
- p.Ser81Cys
- ExAC rs774894491
- gnomAD rs774894491
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.66
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available