N133S (p.Asn133Ser) variant of CHD8 (Q9HCK8)
N133S (p.Asn133Ser) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
N133S (p.Asn133Ser) variant details
- p.Asn133Ser
- rs753610507
- ClinGen CA7091962
- ClinVar RCV001581348
- ExAC rs753610507
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 22.90
- PolyPhen-2 0.65
- SIFT 0.30
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)