N41K (p.Asn41Lys) variant of PCDH19 (Protocadherin-19)
N41K (p.Asn41Lys) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N41K (p.Asn41Lys) variant details
- p.Asn41Lys
- TOPMed rs1928478516
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 0.79
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available