P54S (p.Pro54Ser) variant of SHMT2 (P34897)
P54S (p.Pro54Ser) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- ExAC rs763720256
- TOPMed rs763720256
- gnomAD rs763720256
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.39
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available