S46L (p.Ser46Leu) variant of ABCC4 (O15439)
S46L (p.Ser46Leu) in ABCC4 (O15439) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
S46L (p.Ser46Leu) variant details
- p.Ser46Leu
- rs775555726
- NCI-TCGA Cosmic COSV6531
- cosmic curated COSV65310
- ExAC rs775555726
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)