V95I (p.Val95Ile) variant of HTR2A (5-hydroxytryptamine receptor 2A)
V95I (p.Val95Ile) in HTR2A (5-hydroxytryptamine receptor 2A) 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 0.78 / 1. The record also includes population frequency data and structural context.
V95I (p.Val95Ile) variant details
- p.Val95Ile
- rs780635453
- NCI-TCGA Cosmic COSV6632
- cosmic curated COSV66327
- ExAC rs780635453
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.77
- MetaLR 0.79
- MetaSVM 0.74
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available