V6A (p.Val6Ala) variant of EPCAM (P16422)
V6A (p.Val6Ala) in EPCAM (P16422) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- ExAC rs771965334
- gnomAD rs771965334
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.09
- MetaLR 0.15
- MetaSVM -0.92
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available