D88G (p.Asp88Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
D88G (p.Asp88Gly) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. 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.
D88G (p.Asp88Gly) variant details
- p.Asp88Gly
- rs141202337
- ClinGen CA8233320
- ClinVar RCV000957491
- 1000Genomes rs141202337
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.06
- CADD 22.30
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available