P35L (p.Pro35Leu) variant of MTHFR (P42898)
P35L (p.Pro35Leu) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- cosmic curated COSV56738
- ExAC rs766242179
- gnomAD rs766242179
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.49
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available