V31A (p.Val31Ala) variant of SUZ12 (Polycomb protein SUZ12)
V31A (p.Val31Ala) in SUZ12 (Polycomb protein SUZ12) 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 0.26 / 1. The record also includes population frequency data and structural context.
V31A (p.Val31Ala) variant details
- p.Val31Ala
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10049
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.20
- MetaLR 0.38
- MetaSVM -0.75
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.72
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.8e-05)
- Structural context available