N95K (p.Asn95Lys) variant of PIEZO2 (Q9H5I5)
N95K (p.Asn95Lys) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N95K (p.Asn95Lys) variant details
- p.Asn95Lys
- rs1333482303
- gnomAD 18-10666680-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 0.29
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available