M106I (p.Met106Ile) variant of PCDH19 (Protocadherin-19)
M106I (p.Met106Ile) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
M106I (p.Met106Ile) variant details
- p.Met106Ile
- ExAC rs750982847
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.97
- SIFT 0.66
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available