S32L (p.Ser32Leu) variant of MMADHC (Q9H3L0)
S32L (p.Ser32Leu) 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 0.77 / 1. The record also includes population frequency data and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- rs1434979492
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57573
- gnomAD rs1434979492
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.82
- CADD 28.20
- PolyPhen-2 0.93
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available