D78N (p.Asp78Asn) variant of SPTA1 (P02549)
D78N (p.Asp78Asn) in SPTA1 (P02549) 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 0.63 / 1. The record also includes population frequency data.
D78N (p.Asp78Asn) variant details
- p.Asp78Asn
- NCI-TCGA Cosmic COSV6374
- cosmic curated COSV63749
- NCI-TCGA Cosmic COSV6375
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 21.20
- PolyPhen-2 0.32
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)