A20V (p.Ala20Val) variant of PCDH19 (Protocadherin-19)
A20V (p.Ala20Val) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs2520999260
- ClinGen CA414011465
- ClinVar RCV003332735
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.14
- CADD 18.70
- PolyPhen-2 0.02
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available