Q58K (p.Gln58Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
Q58K (p.Gln58Lys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q58K (p.Gln58Lys) variant details
- p.Gln58Lys
- gnomAD X-124365795-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.18
- MetaLR 0.36
- MetaSVM -0.51
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available