S49N (p.Ser49Asn) variant of APOL1 (Apolipoprotein L1)
S49N (p.Ser49Asn) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- cosmic curated COSV10004
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.02
- CADD 1.42
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available