S14N (p.Ser14Asn) variant of KCNB1 (Q14721)
S14N (p.Ser14Asn) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Developmental and epileptic encephalopathy, 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- gnomAD rs1345903931
- Benign
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.24
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Benign (Developmental and epileptic encephalopathy, 26)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)