A21V (p.Ala21Val) variant of PICALM (Q13492)
A21V (p.Ala21Val) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- cosmic curated COSV10070
- 1000Genomes rs187561271
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.24
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available