V30A (p.Val30Ala) variant of MAOB (P27338)
V30A (p.Val30Ala) in MAOB (P27338) 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 0.80 / 1. The record also includes population frequency data and structural context.
V30A (p.Val30Ala) variant details
- p.Val30Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.90
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available