R15T (p.Arg15Thr) variant of SHMT2 (P34897)
R15T (p.Arg15Thr) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R15T (p.Arg15Thr) variant details
- p.Arg15Thr
- gnomAD 12-57230813-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.12
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the HGDP:PIMA population (allele frequency 0.27)
- Structural context available
- Literature evidence available