V14A (p.Val14Ala) variant of ID3 (Q02535)
V14A (p.Val14Ala) in ID3 (Q02535) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- TOPMed rs1056080527
- gnomAD rs1056080527
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.39
- MetaLR 0.38
- MetaSVM -0.42
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available