R5S (p.Arg5Ser) variant of HTR2C (5-hydroxytryptamine receptor 2C)
R5S (p.Arg5Ser) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- cosmic curated COSV52206
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.03
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available