P54P (p.Pro54Pro) variant of SHMT2 (P34897)
P54P (p.Pro54Pro) in SHMT2 (P34897) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P54P (p.Pro54Pro) variant details
- p.Pro54Pro
- gnomAD 12-57230931-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 12.70
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Literature evidence available