K31N (p.Lys31Asn) variant of SETD2 (Q9BYW2)
K31N (p.Lys31Asn) in SETD2 (Q9BYW2) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- rs2106730247
- ClinGen CA352538622
- ClinVar RCV001814728
- Ensembl rs2106730247
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.34
- CADD 23.50
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-06)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.831