R69R (p.Arg69Arg) variant of SHMT2 (P34897)
R69R (p.Arg69Arg) in SHMT2 (P34897) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R69R (p.Arg69Arg) variant details
- p.Arg69Arg
- gnomAD 12-57230976-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.23
- Most common in the HGDP:LAHU population (allele frequency 0.1)
- Structural context available
- Literature evidence available