K31N (p.Lys31Asn) variant of MEF2C (Q06413)
K31N (p.Lys31Asn) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, 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 0.96 / 1. The record also includes structural context.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- rs1057518382
- ClinGen CA16042532
- cosmic curated COSV10042
- ClinVar RCV000414651
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available