D286N (p.Asp286Asn) variant of CRMP1 (Q14194)
D286N (p.Asp286Asn) in CRMP1 (Q14194) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D286N (p.Asp286Asn) variant details
- p.Asp286Asn
- cosmic curated COSV61480
- ESP rs376257908
- ExAC rs376257908
- TOPMed rs376257908
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available