A41V (p.Ala41Val) variant of MMAA (Q8IVH4)
A41V (p.Ala41Val) in MMAA (Q8IVH4) 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 0.18 / 1. The record also includes population frequency data and structural context.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- rs1307377428
- NCI-TCGA Cosmic COSV5557
- cosmic curated COSV55579
- gnomAD rs1307377428
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 7.17
- PolyPhen-2 0.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available