V61A (p.Val61Ala) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
V61A (p.Val61Ala) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V61A (p.Val61Ala) variant details
- p.Val61Ala
- gnomAD X-123885844-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.77
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available