S12N (p.Ser12Asn) variant of SRC (P12931)
S12N (p.Ser12Asn) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- gnomAD 20-37384188-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.10
- MetaLR 0.24
- MetaSVM -0.75
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.309
- Literature evidence available