I83T (p.Ile83Thr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
I83T (p.Ile83Thr) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Lymphatic malformation 6; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I83T (p.Ile83Thr) variant details
- p.Ile83Thr
- rs6500495
- ClinGen CA8233323
- ClinVar RCV001712570
- ClinVar RCV001788258
- Benign
- not provided; Lymphatic malformation 6; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.00
- MetaSVM -0.98
- CADD 16.20
- ClinVar: Benign (not provided; Lymphatic malformation 6; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available