V135A (p.Val135Ala) variant of ANKRD1 (Q15327)
V135A (p.Val135Ala) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
V135A (p.Val135Ala) variant details
- p.Val135Ala
- rs995351186
- ClinGen CA377552230
- NCI-TCGA Cosmic COSV6331
- ClinVar RCV004519540
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.44
- MetaLR 0.37
- MetaSVM -0.29
- PolyPhen-2 1.00
- SIFT 0.14
- EVE 0.42
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available