H25D (p.His25Asp) variant of SRC (P12931)
H25D (p.His25Asp) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H25D (p.His25Asp) variant details
- p.His25Asp
- TOPMed rs1188439975
- gnomAD rs1188439975
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.34
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.632