P88L (p.Pro88Leu) variant of MTHFR (P42898)
P88L (p.Pro88Leu) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- cosmic curated COSV56743
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.96
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available