M24T (p.Met24Thr) variant of DAP3 (P51398)
M24T (p.Met24Thr) in DAP3 (P51398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
M24T (p.Met24Thr) variant details
- p.Met24Thr
- ExAC rs775549205
- gnomAD rs775549205
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0593
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available