P38L (p.Pro38Leu) variant of SH2D1A (SH2 domain-containing protein 1A)
P38L (p.Pro38Leu) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- gnomAD X-124346755-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.57
- MetaLR 0.74
- MetaSVM 0.63
- CADD 25.30
- PolyPhen-2 0.66
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available