N117H (p.Asn117His) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
N117H (p.Asn117His) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N117H (p.Asn117His) variant details
- p.Asn117His
- TOPMed rs1905664493
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.19
- MetaSVM -0.87
- CADD 23.90
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available