S49N (p.Ser49Asn) variant of APOA1 (Apolipoprotein A-I)
S49N (p.Ser49Asn) in APOA1 (Apolipoprotein A-I) 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 0.18 / 1. The record also includes population frequency data and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- rs755026583
- NCI-TCGA Cosmic COSV5263
- cosmic curated COSV52636
- ExAC rs755026583
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.15
- CADD 14.30
- PolyPhen-2 0.32
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available