T122A (p.Thr122Ala) variant of PICALM (Q13492)
T122A (p.Thr122Ala) in PICALM (Q13492) 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 0.51 / 1. The record also includes population frequency data and structural context.
T122A (p.Thr122Ala) variant details
- p.Thr122Ala
- rs1464994938
- NCI-TCGA Cosmic COSV6267
- cosmic curated COSV62673
- gnomAD rs1464994938
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.52
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available