R75I (p.Arg75Ile) variant of SH2D1A (SH2 domain-containing protein 1A)
R75I (p.Arg75Ile) in SH2D1A (SH2 domain-containing protein 1A) 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 0.77 / 1. The record also includes population frequency data and structural context.
R75I (p.Arg75Ile) variant details
- p.Arg75Ile
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- NCI-TCGA Cosmic COSV6357
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.78
- MetaLR 0.79
- MetaSVM 0.63
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available