I32V (p.Ile32Val) variant of DAP3 (P51398)
I32V (p.Ile32Val) in DAP3 (P51398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- ESP rs200523835
- ExAC rs200523835
- TOPMed rs200523835
- gnomAD rs200523835
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 7.65
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available