A19V (p.Ala19Val) variant of MTHFR (P42898)
A19V (p.Ala19Val) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD rs1333552513
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.24
- CADD 15.60
- PolyPhen-2 0.05
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available