P63L (p.Pro63Leu) variant of HTR2A (5-hydroxytryptamine receptor 2A)
P63L (p.Pro63Leu) 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 0.38 / 1. The record also includes population frequency data and structural context.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- rs1157228569
- NCI-TCGA Cosmic COSV6632
- cosmic curated COSV66327
- TOPMed rs1157228569
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.10
- CADD 24.40
- PolyPhen-2 0.03
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available