Q58R (p.Gln58Arg) variant of SH2D1A (SH2 domain-containing protein 1A)
Q58R (p.Gln58Arg) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q58R (p.Gln58Arg) variant details
- p.Gln58Arg
- TOPMed rs2060052675
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.36
- MetaLR 0.45
- MetaSVM -0.30
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 4.9e-06)
- Structural context available