I32L (p.Ile32Leu) variant of DAP3 (P51398)
I32L (p.Ile32Leu) in DAP3 (P51398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I32L (p.Ile32Leu) variant details
- p.Ile32Leu
- ESP rs200523835
- ExAC rs200523835
- TOPMed rs200523835
- gnomAD rs200523835
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00069)
- Structural context available