Q22K (p.Gln22Lys) variant of HTR2C (5-hydroxytryptamine receptor 2C)
Q22K (p.Gln22Lys) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q22K (p.Gln22Lys) variant details
- p.Gln22Lys
- rs1556423232
- NCI-TCGA Cosmic COSV5222
- cosmic curated COSV52221
- TOPMed rs1556423232
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.03
- CADD 22.00
- PolyPhen-2 0.85
- SIFT 0.71
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available