A6S (p.Ala6Ser) variant of MMACHC (Q9Y4U1)
A6S (p.Ala6Ser) in MMACHC (Q9Y4U1) 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 0.28 / 1. The record also includes population frequency data and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- rs747875672
- NCI-TCGA Cosmic COSV6898
- ExAC rs747875672
- gnomAD rs747875672
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.24
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available