S30L (p.Ser30Leu) variant of MTHFR (P42898)
S30L (p.Ser30Leu) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S30L (p.Ser30Leu) variant details
- p.Ser30Leu
- rs886043815
- ClinGen CA10605985
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10041
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.48
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available