A31V (p.Ala31Val) variant of SHMT2 (P34897)
A31V (p.Ala31Val) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- gnomAD 12-57230861-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.05
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 0.00013)
- Structural context available
- Literature evidence available