P2430L (p.Pro2430Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P2430L (p.Pro2430Leu) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lymphatic malformation 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P2430L (p.Pro2430Leu) variant details
- p.Pro2430Leu
- rs869025601
- ClinGen CA352209
- ClinVar RCV000208773
- UniProt VAR 076408
- Pathogenic
- Lymphatic malformation 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 30.00
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Pathogenic (Lymphatic malformation 6)
- EBI: Pathogenic (in LMPHM6)
- UniProt: Pathogenic (in LMPHM6)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. (PMID 26333996)