N69S (p.Asn69Ser) variant of DAP3 (P51398)
N69S (p.Asn69Ser) in DAP3 (P51398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N69S (p.Asn69Ser) variant details
- p.Asn69Ser
- rs753527370
- ClinGen CA1149211
- ClinVar RCV004262578
- ExAC rs753527370
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0896
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available