K49N (p.Lys49Asn) variant of PIEZO2 (Q9H5I5)
K49N (p.Lys49Asn) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Arthrog. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K49N (p.Lys49Asn) variant details
- p.Lys49Asn
- Ensembl rs2038141949
- Uncertain significance
- Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Arthrog
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.19
- MetaSVM -0.73
- CADD 21.20
- ClinVar: Uncertain significance (Arthrogryposis- oculomotor limitation-electroretinal anomalies s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.022)
- Structural context available