R12S (p.Arg12Ser) variant of PIEZO2 (Q9H5I5)
R12S (p.Arg12Ser) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- gnomAD rs1048530216
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.28
- MetaSVM -0.73
- CADD 24.10
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available