N30H (p.Asn30His) variant of NBN (Nibrin)
N30H (p.Asn30His) in NBN (Nibrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
N30H (p.Asn30His) variant details
- p.Asn30His
- Ensembl rs2129925520
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.34
- CADD 25.40
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available