R21W (p.Arg21Trp) variant of SHMT2 (P34897)
R21W (p.Arg21Trp) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R21W (p.Arg21Trp) variant details
- p.Arg21Trp
- gnomAD 12-57230830-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.09
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- Structural context available
- Literature evidence available