D100N (p.Asp100Asn) variant of MTHFR (P42898)
D100N (p.Asp100Asn) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D100N (p.Asp100Asn) variant details
- p.Asp100Asn
- gnomAD rs1296179669
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.32
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available