N3K (p.Asn3Lys) variant of MTHFR (P42898)
N3K (p.Asn3Lys) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- cosmic curated COSV56742
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.28
- CADD 6.50
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available