A138T (p.Ala138Thr) variant of MSI1 (O43347)
A138T (p.Ala138Thr) in MSI1 (O43347) 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 0.44 / 1. The record also includes population frequency data and structural context.
A138T (p.Ala138Thr) variant details
- p.Ala138Thr
- rs769968859
- NCI-TCGA Cosmic COSV9998
- gnomAD rs769968859
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.17
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available