D29N (p.Asp29Asn) variant of CLN3 (Battenin)
D29N (p.Asp29Asn) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- gnomAD rs1211763551
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 16.20
- PolyPhen-2 0.03
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)