V82I (p.Val82Ile) variant of PCDH19 (Protocadherin-19)
V82I (p.Val82Ile) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V82I (p.Val82Ile) variant details
- p.Val82Ile
- cosmic curated COSV10504
- TOPMed rs1389369756
- gnomAD rs1389369756
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.03
- CADD 18.50
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available