V63A (p.Val63Ala) variant of KMT2D (O14686)
V63A (p.Val63Ala) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V63A (p.Val63Ala) variant details
- p.Val63Ala
- rs886049488
- ClinGen CA10632940
- ClinVar RCV003131401
- TOPMed rs886049488
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.30
- MetaLR 0.25
- MetaSVM -0.88
- CADD 5.52
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available