A136T (p.Ala136Thr) variant of ABCC4 (O15439)
A136T (p.Ala136Thr) in ABCC4 (O15439) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
A136T (p.Ala136Thr) variant details
- p.Ala136Thr
- rs1400854469
- NCI-TCGA Cosmic COSV6531
- cosmic curated COSV65312
- TOPMed rs1400854469
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0938
- CADD 4.05
- PolyPhen-2 0.11
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 9.3e-05)