H55P (p.His55Pro) variant of PIEZO2 (Q9H5I5)
H55P (p.His55Pro) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H55P (p.His55Pro) variant details
- p.His55Pro
- rs145948919
- ClinGen CA8892875
- cosmic curated COSV10012
- ClinVar RCV000242269
- Benign/Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.21
- MetaSVM -0.52
- CADD 23.00
- ClinVar: Benign/Likely benign (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Amish population (allele frequency 0.077)
- Structural context available