S39L (p.Ser39Leu) variant of MMADHC (Q9H3L0)
S39L (p.Ser39Leu) in MMADHC (Q9H3L0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
S39L (p.Ser39Leu) variant details
- p.Ser39Leu
- rs746785981
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57574
- ExAC rs746785981
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.74
- CADD 22.50
- PolyPhen-2 0.30
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available