M108I (p.Met108Ile) variant of SPTA1 (P02549)
M108I (p.Met108Ile) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
M108I (p.Met108Ile) variant details
- p.Met108Ile
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10093
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0816
- CADD 0.44
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)