S42N (p.Ser42Asn) variant of MERTK (Tyrosine-protein kinase Mer)
S42N (p.Ser42Asn) in MERTK (Tyrosine-protein kinase Mer) 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 0.23 / 1. The record also includes population frequency data and structural context.
S42N (p.Ser42Asn) variant details
- p.Ser42Asn
- NCI-TCGA Cosmic COSV5493
- cosmic curated COSV54935
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.14
- MetaLR 0.20
- MetaSVM -0.96
- CADD 0.46
- PolyPhen-2 0.02
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available