P13L (p.Pro13Leu) variant of MTHFR (P42898)
P13L (p.Pro13Leu) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- cosmic curated COSV10041
- ExAC rs749606539
- gnomAD rs749606539
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.25
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available