D29N (p.Asp29Asn) variant of KEAP1 (Q14145)
D29N (p.Asp29Asn) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- cosmic curated COSV50267
- ExAC rs768189808
- gnomAD rs768189808
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.07
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available