L80V (p.Leu80Val) variant of PCDH19 (Protocadherin-19)
L80V (p.Leu80Val) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- ExAC rs770435361
- gnomAD rs770435361
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.02
- CADD 10.30
- PolyPhen-2 0.11
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available