A12T (p.Ala12Thr) variant of CSRP3 (P50461)
A12T (p.Ala12Thr) in CSRP3 (P50461) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- NCI-TCGA Cosmic COSV9978
- cosmic curated COSV99788
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.52
- CADD 23.40
- PolyPhen-2 0.84
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available