N3K (p.Asn3Lys) variant of HTR2C (5-hydroxytryptamine receptor 2C)
N3K (p.Asn3Lys) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- cosmic curated COSV52202
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.01
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available