D75N (p.Asp75Asn) variant of KCNQ3 (O43525)
D75N (p.Asp75Asn) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar 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 0.47 / 1. The record also includes population frequency data and structural context.
D75N (p.Asp75Asn) variant details
- p.Asp75Asn
- NCI-TCGA Cosmic COSV6647
- cosmic curated COSV66472
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.38
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available