p.His32 Pro33insValArg variant of PIEZO2 (Q9H5I5)
p.His32 Pro33insValArg in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
p.His32 Pro33insValArg variant details
- rs2033617731
- gnomAD 18-10666775-G-GTC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.0911
- CADD 1.47
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available