N41D (p.Asn41Asp) variant of PCDH19 (Protocadherin-19)
N41D (p.Asn41Asp) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N41D (p.Asn41Asp) variant details
- p.Asn41Asp
- 1000Genomes rs1341619338
- gnomAD rs1341619338
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.11
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available