H48P (p.His48Pro) variant of SH2D1A (SH2 domain-containing protein 1A)
H48P (p.His48Pro) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
H48P (p.His48Pro) variant details
- p.His48Pro
- gnomAD X-124365782-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 9.83
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Literature evidence available