D81G (p.Asp81Gly) variant of MTHFR (P42898)
D81G (p.Asp81Gly) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D81G (p.Asp81Gly) variant details
- p.Asp81Gly
- gnomAD rs1261482213
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.88
- CADD 26.00
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available