K98R (p.Lys98Arg) variant of PCDH19 (Protocadherin-19)
K98R (p.Lys98Arg) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K98R (p.Lys98Arg) variant details
- p.Lys98Arg
- rs1240585527
- NCI-TCGA Cosmic COSV5527
- cosmic curated COSV55272
- gnomAD rs1240585527
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.17
- CADD 25.40
- PolyPhen-2 0.59
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available