G42V (p.Gly42Val) variant of SHMT2 (P34897)
G42V (p.Gly42Val) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- gnomAD 12-57230894-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.06
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available