R11W (p.Arg11Trp) variant of SHMT2 (P34897)
R11W (p.Arg11Trp) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- cosmic curated COSV61072
- gnomAD rs1205082451
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.13
- CADD 26.80
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available